Collagen type IX alpha 1 chain (COL9A1) Associated conditions: 1. Stickler syndrome
| SNo. | Status | mRNA accession | Protein accession | Genomic DNA accession (Chromosome) | mRNA location on genomic DNA | Assembly | UniProtkb ID |
| 1 | REVIEWED | NM_001377289.1 | NP_001364218.1 | NC_000006.12 | (70215060..70303083, complement) | Reference GRCh38.p14 Primary Assembly | P20849 |
| 2 | REVIEWED | NM_001377290.1 | NP_001364219.1 | NC_000006.12 | (70215060..70303083, complement) | Reference GRCh38.p14 Primary Assembly | P20849 |
| 3 | REVIEWED | NM_001377291.1 | NP_001364220.1 | NC_000006.12 | (70215060..70303083, complement) | Reference GRCh38.p14 Primary Assembly | P20849 |
| 4 | REVIEWED | NM_001851.6 | NP_001842.3 | NC_000006.12 | (70215060..70303083, complement) | Reference GRCh38.p14 Primary Assembly | P20849 |
| 5 | REVIEWED | NM_078485.4 | NP_511040.2 | NC_000006.12 | (70215060..70303083, complement) | Reference GRCh38.p14 Primary Assembly | P20849 |
| 6 | REVIEWED | NR_165185.1 | - | NC_000006.12 | (70215060..70303083, complement) | Reference GRCh38.p14 Primary Assembly | P20849 |
Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.
Variant Information Collagen type IX alpha 1 chain (COL9A1) Mutation Visualization Dashboard: Pathogenic variant distribution chart
ClinVar variants:Revealing mutagenic patterns
| SNo. | Reported in speceis | Evidence | Qualifier | GO term | Category | Pubmed Link |
| 1 | Homo sapiens | IPI | enables | protein binding | Function | 15047691 32814053 33961781 |
| 2 | Homo sapiens | TAS | located_in | extracellular region | Component | - |
| 3 | Homo sapiens | IBA | part_of | collagen type IX trimer | Component | - |
| 4 | Homo sapiens | IDA | part_of | collagen type IX trimer | Component | 8660302 |
| 5 | Homo sapiens | TAS | part_of | collagen type IX trimer | Component | 9707347 |
| 6 | Homo sapiens | IEA | located_in | endoplasmic reticulum lumen | Component | - |
| 7 | Homo sapiens | TAS | located_in | endoplasmic reticulum lumen | Component | - |
| 8 | Homo sapiens | IEA | involved_in | animal organ morphogenesis | Process | - |
| 9 | Homo sapiens | TAS | involved_in | animal organ morphogenesis | Process | 3473493 |
| 10 | Homo sapiens | IBA | enables | extracellular matrix structural constituent conferring tensile strength | Function | - |
| 11 | Homo sapiens | IC | enables | extracellular matrix structural constituent conferring tensile strength | Function | 8660302 |
| 12 | Homo sapiens | RCA | enables | extracellular matrix structural constituent conferring tensile strength | Function | 25037231 |
| 13 | Homo sapiens | IBA | involved_in | extracellular matrix organization | Process | - |
| 14 | Homo sapiens | EXP | enables | carbohydrate binding | Function | 15047691 |
| 15 | Homo sapiens | IMP | enables | carbohydrate binding | Function | 15047691 |
| 16 | Homo sapiens | IPI | enables | carbohydrate binding | Function | 15047691 17553797 |
| 17 | Homo sapiens | HDA | located_in | extracellular matrix | Component | 25037231 |
| 18 | Homo sapiens | IBA | is_active_in | extracellular matrix | Component | - |
| 19 | Homo sapiens | IPI | enables | protein homodimerization activity | Function | 8660302 |
| 20 | Homo sapiens | IEA | enables | metal ion binding | Function | - |